rs721917, SFTPD

N. diseases: 14
Disease: Pulmonary Emphysema ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
0.010 GeneticVariation BEFREE The C/C (rs721917/rs10887199) haplotype was associated with emphysema in both the populations.Subjects with a C allele at rs721917 have a lower serum SFTPD concentration and are more susceptible to emphysema. 21934714 2012